title: Congenital aniridia variant: minimally abnormal irides with severe limbal stem cell deficiency.
abstract: OBJECTIVE
  To clinically and molecularly characterize a group of patients with progressive limbal stem cell deficiency (LSCD) due to aniridic keratopathy (AK), but with minimally affected irides.
  
  
  METHODS
  Retrospective case series.
  
  
  METHODS
  A total of 12 eyes of 6 patients who underwent keratolimbal allograft (KLAL) for AK in the absence of the classic stigmata of aniridia at the Cincinnati Eye Institute/University of Cincinnati between 2000 and 2007.
  
  
  METHODS
  Retrospective chart review.
  
  
  METHODS
  Ocular surface stability after KLAL and change in visual acuity.
  
  
  RESULTS
  Subjects' mean age was 32.57 years, 66% were female, and mean follow-up was 64.4 months (range, 20-115 months). All patients presented with a decline in their vision secondary to LSCD. Average preoperative best-corrected visual acuity (BCVA) logarithm of the minimum angle of resolution (logMAR) was 1.4 (range, 0.10-2.8). All patients had minimally affected irides with subtle abnormal findings, including ectropion uveae and stromal atrophy. All patients developed severe LSCD and required KLAL. Average postoperative logMAR BCVA was 0.35 (range, 0.00-1.00). All ocular surfaces remained stable throughout the follow-up period. Family history consistent with autosomal dominant inheritance was positive in 4 of 6 patients. PAX6 genetic testing identified 2 pathologic mutations and 1 possible disease-causing variant.
  
  
  CONCLUSIONS
  Aniridic keratopathy may present in the absence of other classic stigmata of aniridia and be associated with minimally affected irides. A subset of these patients has definitive mutations in PAX6 and once identified can be counseled appropriately. These patients respond well to KLAL and may therefore benefit from early detection.
authors.affiliation: Storm Eye Institute, Medical University of South Carolina, Charleston, SC, USA. skeens@musc.edu
authors.forename: Heather M
authors.initials: HM
authors.lastname: Skeens
authors.forename: Brian P
authors.initials: BP
authors.lastname: Brooks
authors.forename: Edward J
authors.initials: EJ
authors.lastname: Holland
mesh_terms: D015783:Aniridia / Q000150:complications / Q000473:pathology* / Q000503:physiopathology / Q000601:surgery; D001284:Atrophy; D002648:Child; D002675:Child, Preschool; D003319:Corneal Stroma / Q000473:pathology; D016039:Corneal Transplantation; D018450:Disease Progression; D004483:Ectropion / Q000209:etiology; D005136:Eye Proteins / Q000235:genetics; D005139:Eyeglasses; D005500:Follow-Up Studies; D005799:Genes, Dominant; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007223:Infant; D016850:Limbus Corneae / Q000473:pathology*; D009154:Mutation; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics; D012189:Retrospective Studies; D012720:Severity of Illness Index; D013234:Stem Cells / Q000473:pathology*; D014786:Vision Disorders / Q000209:etiology / Q000503:physiopathology; D014792:Visual Acuity
chemical_list: D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins